Search results for "45"

Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients

2011

Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder defined clinically by progressive lower limb spasticity and weakness. HSP is a genetically highly heterogeneous condition with at least 46 gene loci identified so far, involving X-linked, autosomal recessive (AR) and autosomal dominant inheritance. For correct diagnosis, molecular testing is essential because clinical parameters by themselves are not reliable to differentiate HSP forms. The purpose of this study was to establish amplicon-based high-throughput genotyping for AR-HSP. A sample of 187 index cases with apparently sporadic or recessive spastic paraplegia were analyzed by applying an array-based amplification stra…

Ustekinumab therapy changes the transcriptional activity pattern of TGF-β1–3 genes

2019

Introduction One of the examples of genes whose expression can be altered by the action of ustekinumab is TGF-β. It is a pleiotropic cytokine whose activity affects psoriatic changes and the state of homeostasis of the whole organism. Aim To evaluate the effect of ustekinumab on the transcriptional activity of TGF-b family genes in patients with psoriatic arthritis and to check whether the results obtained can be helpful in monitoring the progress of treatment. Material and methods From total PBMCs obtained from peripheral blood of 14 patients with psoriatic arthritis, total RNA was isolated. The expression level of the TGF-β1, TGF-β2 and TGF-β3 genes was determined by RT-qPCR in real time.…

Rimodulazioni morfosintattiche latino-romanze in prospettiva sistematica

2013

Global representation and multiscale expansion for the Dirichlet problem in a domain with a small hole close to the boundary

2019

For each pair (Formula presented.) of positive parameters, we define a perforated domain (Formula presented.) by making a small hole of size (Formula presented.) in an open regular subset (Formula presented.) of (Formula presented.) ((Formula presented.)). The hole is situated at distance (Formula presented.) from the outer boundary (Formula presented.) of the domain. Thus, when (Formula presented.) both the size of the hole and its distance from (Formula presented.) tend to zero, but the size shrinks faster than the distance. Next, we consider a Dirichlet problem for the Laplace equation in the perforated domain (Formula presented.) and we denote its solution by (Formula presented.) Our ai…

Reliability and methodology of quantitative assessment of harvested and unharvested patellar tendons of ACL injured athletes using ultrasound tissue …

2019

Ultrasound tissue characterization (UTC) imaging has been previously used to describe the characteristics of patellar and Achilles tendons. UTC imaging compares and correlates successive ultrasonographic transverse tendon images to calculate the distribution of four color-coded echo-types that represent different tendon tissue types. However, UTC has not been used to describe the characteristics of patellar tendons after anterior cruciate ligament reconstruction (ACLR). The aim of this cross-sectional study was to assess the intra and inter-rater reliability of the UTC in unharvested and harvested patellar tendons of patients undergoing ACLR. Intra and inter-rater reliability of both UTC da…

MRI findings and physical performance as predictors of flight-induced musculoskeletal pain incidence among fighter pilots

2017

Summary Study aim: The aim of this study was to evaluate the possible association of pre-career magnetic resonance imaging (MRI) find­ings and physical performance level with possible musculoskeletal disorders during jet flight training. Material and methods: The study group consisted of 73 fighter pilots who had undergone pre-career cervical and lumbar spine MRI. Physical performance of a subgroup of the pilots (n = 67) was measured initially at the same time and followed up to the fast jet training phase (ranging from 3.8 to 7.0 years). Musculoskeletal pain history during pilot training was taken from the medical charts. MRI findings and physical performance were associated with perceived…

Pathogenesis of polymyalgia rheumatica

2018

Polymyalgia rheumatica (PMR) is a chronic, inflammatory disorder of unknown cause, almost exclusively occurring in people aged over 50 and often associated with giant cell arteritis. The evidence that PMR occurs almost exclusively in individuals aged over 50 may indicate that age-related immune alterations in genetically predisposed subjects contribute to development of the disease. Several infectious agents have been investigated as possible triggers of PMR even though the results are inconclusive. Activation of the innate and adaptive immune systems has been proved in PMR patients as demonstrated by the activation of dendritic cells and monocytes/macrophages and the altered balance betwee…

Giant cell arteritis associated with chronic active Epstein-Barr virus infection

2013

Giant cell arteritis is an inflammatory vasculopathy that preferentially affects medium-sized and large arteries. A viral cause has been suspected but not confirmed in polymyalgia rheumatica and giant-cell arteritis. We report the case of a 81-year-old female who suffered from chronic active Epstein-Barr virus infection and developed giant cell temporal arteritis.

mRNA expression profiles of primary high-grade central osteosarcoma are preserved in cell lines and xenografts

2011

Abstract Background Conventional high-grade osteosarcoma is a primary malignant bone tumor, which is most prevalent in adolescence. Survival rates of osteosarcoma patients have not improved significantly in the last 25 years. Aiming to increase this survival rate, a variety of model systems are used to study osteosarcomagenesis and to test new therapeutic agents. Such model systems are typically generated from an osteosarcoma primary tumor, but undergo many changes due to culturing or interactions with a different host species, which may result in differences in gene expression between primary tumor cells, and tumor cells from the model system. We aimed to investigate whether gene expressio…

Leksiskie izteiksmes līdzekļi R. Bredberija romānā "451 grāds pēc Fārenheita"

2021

Amerikāņu rakstnieks Rejs Bredberijs ir visplašāk pazīstams, pateicoties viņa augsti novērtētajam un bieži referencētajam antiutopijas romānam "451 grāds pēc Fārenheita". Viņa proza atšķiras ar tās tēlaino un īpatnējo stilu, kurš iekļauj bagātīgu dažādu mākslinieciskās izteiksmes līdzekļu izmantojumu. Šī bakalaura darba mērķis ir apskatīt un kategorizēt romānā "451 grāds pēc Fārenheita" izmantotos tēlainās izteiksmes līdzekļus, kā arī analizēt to sižetisko nozīmi un efektu. Šī pētījuma teorētiskā daļa galvenokārt ietver dažādu teoriju apskatu saistībā ar izteiksmes līdzekļiem un tēlainību, savukārt praktiskā daļa sniedz vēstījuma analīzi. Pēc 225 metaforu, metonīmiju un salīdzinājumu izpēte…